Pallister–Killian syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Pallister–Killian syndrome" in English language version.

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doi.org

  • Jafari-Ghahfarokhi H, Moradi-Chaleshtori M, Liehr T, Hashemzadeh-Chaleshtori M, Teimori H, Ghasemi-Dehkordi P (2015). "Small supernumerary marker chromosomes and their correlation with specific syndromes". Advanced Biomedical Research. 4: 140. doi:10.4103/2277-9175.161542. PMC 4544121. PMID 26322288.
  • Karaman B, Kayserili H, Ghanbari A, Uyguner ZO, Toksoy G, Altunoglu U, Basaran S (2018). "Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases". Molecular Cytogenetics. 11: 45. doi:10.1186/s13039-018-0395-z. PMC 6098576. PMID 30140312.
  • Arghir A, Popescu R, Resmerita I, Budisteanu M, Butnariu LI, Gorduza EV, Gramescu M, Panzaru MC, Papuc SM, Sireteanu A, Tutulan-Cunita A, Rusu C (May 2021). "Pallister-Killian Syndrome versus Trisomy 12p-A Clinical Study of 5 New Cases and a Literature Review". Genes. 12 (6): 811. doi:10.3390/genes12060811. PMC 8226674. PMID 34073526.
  • Polityko, A.D., E. Goncharova, L. Shamgina; et al. (2005). "Pallister-Killian Syndrome : Rapid Decrease of Isochromosome 12p Frequency during Amniocyte Subculturing. Conclusion for Strategy of Prenatal Cytogenetic Diagnostics". Journal of Histochemistry and Cytochemistry. 53 (3): 361–364. doi:10.1369/jhc.4A6402.2005. PMID 15750020.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • Schubert R, Viersbach R, Eggermann T, Hansmann M, Schwanitz G (October 1997). "Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selection". American Journal of Medical Genetics. 72 (1): 106–10. doi:10.1002/(sici)1096-8628(19971003)72:1<106::aid-ajmg21>3.0.co;2-u. PMID 9295085.
  • Wang T, Ren C, Chen D, Lu J, Guo L, Zheng L, Liu Y, Chen H (2019). "Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples". Molecular Cytogenetics. 12: 39. doi:10.1186/s13039-019-0449-x. PMC 6717365. PMID 31497069.
  • Salzano E, Raible SE, Kaur M, Wilkens A, Sperti G, Tilton RK, Bettini LR, Rocca A, Cocchi G, Selicorni A, Conlin LK, McEldrew D, Gupta R, Thakur S, Izumi K, Krantz ID (December 2018). "Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis". American Journal of Medical Genetics. Part A. 176 (12): 2575–2586. doi:10.1002/ajmg.a.40499. PMID 30289601. S2CID 52921433.
  • Chau MH, Lam DY, Zhu X, Kwok YK, Ting YH, Chan WP, Shi M, Cheung SW, Lau TK, Ville Y, Leung TY, Choy KW (July 2020). "The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome". Prenatal Diagnosis. 40 (8): 1005–1012. doi:10.1002/pd.5721. PMID 32350887. S2CID 217587371.
  • Gasparini Y, Montenegro MM, Novo-Filho GM, Ceroni JR, Honjo RS, Zanardo ÉA, Dias AT, Nascimento AM, Costa TV, Madia FA, Chehimi SN, Damasceno JG, Kim CA, Kulikowski LD (2019). "Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines". Cytogenetic and Genome Research. 157 (3): 153–157. doi:10.1159/000498836. PMID 30933946. S2CID 91187498.
  • Schubert, R., R. Viersbach, T. Eggermann (1997). "Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selection". Am J Med Genet. 72 (1): 106–110. doi:10.1002/(SICI)1096-8628(19971003)72:1<106::AID-AJMG21>3.0.CO;2-U. PMID 9295085.{{cite journal}}: CS1 maint: multiple names: authors list (link)

genome.gov

mayoclinic.org

medlineplus.gov

nih.gov

pubmed.ncbi.nlm.nih.gov

  • Jafari-Ghahfarokhi H, Moradi-Chaleshtori M, Liehr T, Hashemzadeh-Chaleshtori M, Teimori H, Ghasemi-Dehkordi P (2015). "Small supernumerary marker chromosomes and their correlation with specific syndromes". Advanced Biomedical Research. 4: 140. doi:10.4103/2277-9175.161542. PMC 4544121. PMID 26322288.
  • Karaman B, Kayserili H, Ghanbari A, Uyguner ZO, Toksoy G, Altunoglu U, Basaran S (2018). "Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases". Molecular Cytogenetics. 11: 45. doi:10.1186/s13039-018-0395-z. PMC 6098576. PMID 30140312.
  • Arghir A, Popescu R, Resmerita I, Budisteanu M, Butnariu LI, Gorduza EV, Gramescu M, Panzaru MC, Papuc SM, Sireteanu A, Tutulan-Cunita A, Rusu C (May 2021). "Pallister-Killian Syndrome versus Trisomy 12p-A Clinical Study of 5 New Cases and a Literature Review". Genes. 12 (6): 811. doi:10.3390/genes12060811. PMC 8226674. PMID 34073526.
  • Polityko, A.D., E. Goncharova, L. Shamgina; et al. (2005). "Pallister-Killian Syndrome : Rapid Decrease of Isochromosome 12p Frequency during Amniocyte Subculturing. Conclusion for Strategy of Prenatal Cytogenetic Diagnostics". Journal of Histochemistry and Cytochemistry. 53 (3): 361–364. doi:10.1369/jhc.4A6402.2005. PMID 15750020.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • Schubert R, Viersbach R, Eggermann T, Hansmann M, Schwanitz G (October 1997). "Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selection". American Journal of Medical Genetics. 72 (1): 106–10. doi:10.1002/(sici)1096-8628(19971003)72:1<106::aid-ajmg21>3.0.co;2-u. PMID 9295085.
  • Wang T, Ren C, Chen D, Lu J, Guo L, Zheng L, Liu Y, Chen H (2019). "Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples". Molecular Cytogenetics. 12: 39. doi:10.1186/s13039-019-0449-x. PMC 6717365. PMID 31497069.
  • Salzano E, Raible SE, Kaur M, Wilkens A, Sperti G, Tilton RK, Bettini LR, Rocca A, Cocchi G, Selicorni A, Conlin LK, McEldrew D, Gupta R, Thakur S, Izumi K, Krantz ID (December 2018). "Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis". American Journal of Medical Genetics. Part A. 176 (12): 2575–2586. doi:10.1002/ajmg.a.40499. PMID 30289601. S2CID 52921433.
  • Chau MH, Lam DY, Zhu X, Kwok YK, Ting YH, Chan WP, Shi M, Cheung SW, Lau TK, Ville Y, Leung TY, Choy KW (July 2020). "The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome". Prenatal Diagnosis. 40 (8): 1005–1012. doi:10.1002/pd.5721. PMID 32350887. S2CID 217587371.
  • Gasparini Y, Montenegro MM, Novo-Filho GM, Ceroni JR, Honjo RS, Zanardo ÉA, Dias AT, Nascimento AM, Costa TV, Madia FA, Chehimi SN, Damasceno JG, Kim CA, Kulikowski LD (2019). "Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines". Cytogenetic and Genome Research. 157 (3): 153–157. doi:10.1159/000498836. PMID 30933946. S2CID 91187498.
  • Weiss K, Lachlan K, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Mirzaa G, Amemiya A (1993). ""CHD4 Neurodevelopmental Disorder"". PMID 32881470.
  • Schubert, R., R. Viersbach, T. Eggermann (1997). "Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selection". Am J Med Genet. 72 (1): 106–110. doi:10.1002/(SICI)1096-8628(19971003)72:1<106::AID-AJMG21>3.0.CO;2-U. PMID 9295085.{{cite journal}}: CS1 maint: multiple names: authors list (link)

ncbi.nlm.nih.gov

  • Jafari-Ghahfarokhi H, Moradi-Chaleshtori M, Liehr T, Hashemzadeh-Chaleshtori M, Teimori H, Ghasemi-Dehkordi P (2015). "Small supernumerary marker chromosomes and their correlation with specific syndromes". Advanced Biomedical Research. 4: 140. doi:10.4103/2277-9175.161542. PMC 4544121. PMID 26322288.
  • Karaman B, Kayserili H, Ghanbari A, Uyguner ZO, Toksoy G, Altunoglu U, Basaran S (2018). "Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases". Molecular Cytogenetics. 11: 45. doi:10.1186/s13039-018-0395-z. PMC 6098576. PMID 30140312.
  • Arghir A, Popescu R, Resmerita I, Budisteanu M, Butnariu LI, Gorduza EV, Gramescu M, Panzaru MC, Papuc SM, Sireteanu A, Tutulan-Cunita A, Rusu C (May 2021). "Pallister-Killian Syndrome versus Trisomy 12p-A Clinical Study of 5 New Cases and a Literature Review". Genes. 12 (6): 811. doi:10.3390/genes12060811. PMC 8226674. PMID 34073526.
  • Wang T, Ren C, Chen D, Lu J, Guo L, Zheng L, Liu Y, Chen H (2019). "Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples". Molecular Cytogenetics. 12: 39. doi:10.1186/s13039-019-0449-x. PMC 6717365. PMID 31497069.
  • Weiss K, Lachlan K, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Mirzaa G, Amemiya A (1993). ""CHD4 Neurodevelopmental Disorder"". PMID 32881470.

semanticscholar.org

api.semanticscholar.org

  • Salzano E, Raible SE, Kaur M, Wilkens A, Sperti G, Tilton RK, Bettini LR, Rocca A, Cocchi G, Selicorni A, Conlin LK, McEldrew D, Gupta R, Thakur S, Izumi K, Krantz ID (December 2018). "Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis". American Journal of Medical Genetics. Part A. 176 (12): 2575–2586. doi:10.1002/ajmg.a.40499. PMID 30289601. S2CID 52921433.
  • Chau MH, Lam DY, Zhu X, Kwok YK, Ting YH, Chan WP, Shi M, Cheung SW, Lau TK, Ville Y, Leung TY, Choy KW (July 2020). "The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome". Prenatal Diagnosis. 40 (8): 1005–1012. doi:10.1002/pd.5721. PMID 32350887. S2CID 217587371.
  • Gasparini Y, Montenegro MM, Novo-Filho GM, Ceroni JR, Honjo RS, Zanardo ÉA, Dias AT, Nascimento AM, Costa TV, Madia FA, Chehimi SN, Damasceno JG, Kim CA, Kulikowski LD (2019). "Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines". Cytogenetic and Genome Research. 157 (3): 153–157. doi:10.1159/000498836. PMID 30933946. S2CID 91187498.

unipd.it

malattierare.pediatria.unipd.it

web.archive.org